Associated Papers
99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels.
Cen Z et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026
Rare Pathogenic Variants in Pooled Whole-Exome Sequencing Data Suggest Hyperammonemia as a Possible Cause of Dementia Not Classified as Alzheimer's Disease or Frontotemporal Dementia.
Karachanak-Yankova S et al.
Genes, 2024
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.
Daou M et al.
Molecular Genetics & Genomic Medicine, 2023
Functional identification of two novel variants and a hypomorphic variant in ASS1 from patients with Citrullinemia type I.
Liu J et al.
Frontiers in Genetics, 2023
Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations.
Xiong M et al.
Frontiers in Pediatrics, 2022
Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.
Lin Y et al.
Bmc Medical Genetics, 2019
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S et al.
Orphanet Journal of Rare Diseases, 2018
Identification of three novel mutations in fourteen patients with citrullinemia type 1.
Kose E et al.
Clinical Biochemistry, 2017
First manifestation of citrullinemia type I as Sandifer syndrome.
Kılıç M et al.
The Turkish Journal of Pediatrics, 2017
Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.
Kimani JK et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Novel mutations causing hyperimmunoglobulin D and periodic fever syndrome.
Sinha A et al.
Indian Pediatrics, 2012
Mutation analysis of Indian patients with urea cycle defects.
Gupta N et al.
Indian Pediatrics, 2012
Citrullinaemia type I: a common mutation in the Pacific Island population.
Glamuzina E et al.
Journal of Paediatrics and Child Health, 2011
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.
Engel K et al.
Human Mutation, 2009
Investigation of citrullinemia type I variants by in vitro expression studies.
Berning C et al.
Human Mutation, 2008